A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244764



Internal ID22375952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:24300608..24374923hg38UCSC Ensembl
Outerchr11:24322154..24396469hg19UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg386445
hg196445
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254082, nssv14254081, nssv14254079, nssv14254080
SamplesNA19238, NA19239, HG00732, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244764
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer